First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1982-1986

  Asakura, Yumi ^a   Muroya, Koji ^a   Sato, Takeshi ^a   Kurosawa, Kenji ^a   Nishimura, Gen ^b   Adachi, Masanori ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Gonadal dysfunction; Growth retardation; Muscular hypertrophy; Myhre syndrome; SMAD4; Thick calvarium

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE;

ADULT; ARTICLE; AVASCULAR NECROSIS; BONE DYSPLASIA; CASE REPORT; CONNECTIVE TISSUE DISEASE; FEMALE; GENE; GENE MUTATION; GONADORELIN TEST; HETEROZYGOUS MUTATION; HORMONE SUBSTITUTION; HUMAN; JAPANESE; JOINT CONTRACTURE; MENARCHE; MYHRE RUVALCABA SYNDROME; OLIGOMENORRHEA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE; SKIN DEFECT; SKULL DEFECT; SMAD4 GENE;

CHILD; CRYPTORCHIDISM; FACIES; FEMALE; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HUMANS; HYPERTROPHY; INTELLECTUAL DISABILITY; JOINT DISEASES; MUTATION; SMAD4 PROTEIN;

EID: 84864137952     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35440     Document Type: Article

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